Clinical features
- NF2 is a rare genetic condition that is primarily characterised by vestibular schwannomas.
- Symptoms may include:
- Gradual hearing loss
- Tinnitus
- Balance problems
- The condition is diagnosed in individuals with one of the following:
- Bilateral vestibular schwannomas
- A 1° relative with NF2 and unilateral vestibular schwannomas or any two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities
- Unilateral vestibular schwannoma and any two of: meningioma, schwannoma, glioma, neurofibroma, posterior subcapsular lenticular opacities
- Multiple meningiomas and unilateral vestibular schwannoma or any two of schwannoma, glioma,
neurofibroma, cataract - Café-au-lait spots may be present but are usually fewer in number than in NF1.
- Benign tumours may also occur in or around the spinal cord.
- Other tumours of the central nervous system may also develop including schwannomas, meningiomas,
gliomas and rarely neurofibromas.
- Posterior subcapsular cataracts may develop at a younger age than would otherwise be expected, with symptoms including impaired and/or progressive loss of vision.
- Other features include:
- Facial spasms
- Generalised muscle weakness, numbness, pain, and/or partial paralysis
- Difficulty swallowing and/or impaired speech
- Other neurological problems including headaches and/or seizures
- Symptoms usually develop around the time of puberty or during early adulthood from the presence of benign tumours on both auditory nerves (acoustic neuromas/vestibular schwannomas) with 90% being
symptomatic by age 45.
- Up to 30% of patients present in the first two decades of life with a non-vestibular tumour such as intracranial meningioma, astrocytoma or spinal tumour.
- 10% present under the age of 10 years. Early presentation with a non-vestibular tumour is an adverse
prognostic indicator.